Identification and Characterization of a Novel Biallelic SLC12A2 Variant Associated With Kilquist Syndrome (OMIM #619080). Leone P, Nisco A, de Gennaro L, Tolomeo M, Lorefice E, Petrosillo G, Russo S, De Giovanni D, Catacchio CR, Lepri FR, Ventura M, Simonetti S, Tummolo A, Barile M American journal of medical genetics. Part A
Deletions in the CDKL5 5' untranslated region lead to CDKL5 deficiency disorder. Haviland I, Hector RD, Swanson LC, Verran AS, Sherrill E, Frazier Z, Denny AM, Lucash J, Zhang B, Dubbs HA, Marsh ED, Weisenberg JL, Leonard H, Crippa M, Cogliati F, Russo S, Suter B, Rajaraman R, Percy AK, Schreiber JM, Demarest S, Benke TA, Chopra M, Yu TW, Olson HE American journal of medical genetics. Part A
Sleep disordered breathing and daytime hypoventilation in a male with MECP2 mutation. Cacciatori E, Lelii M, Russo S, Alari V, Masciadri M, Guez S, Patria MF, Marchisio P, Milani D American journal of medical genetics. Part A
Use of nutritional devices in Cornelia de Lange syndrome: Data from a large Italian cohort. Decimi V, Parma B, Panceri R, Fossati C, Mariani M, Russo S, Gervasini CC, Cheli M, Cereda A, Selicorni A American journal of medical genetics. Part A
Thrombocytopenia and Cornelia de Lange syndrome: Still an enigma? Cavalleri V, Bettini LR, Barboni C, Cereda A, Mariani M, Spinelli M, Gervasini C, Russo S, Biondi A, Jankovic M, Selicorni A American journal of medical genetics. Part A
Are 22q11.2 distal deletions associated with math difficulties? Carvalho MR, Vianna G, Oliveira Lde F, Costa AJ, Pinheiro-Chagas P, Sturzenecker R, Zen PR, Rosa RF, de Aguiar MJ, Haase VG American journal of medical genetics. Part A
Andersen-Tawil syndrome: prospective cohort analysis and expansion of the phenotype. Yoon G, Oberoi S, Tristani-Firouzi M, Etheridge SP, Quitania L, Kramer JH, Miller BL, Fu YH, Ptácek LJ American journal of medical genetics. Part A
